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Related Experiment Videos

MR findings in globoid cell leucodystrophy.

P Demaerel1, G Wilms, P Verdru

  • 1Department of Radiology, University Hospitals K. U. Leuven, Belgium.

Neuroradiology
|January 1, 1990
PubMed
Summary
This summary is machine-generated.

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Globoid cell leucodystrophy (GLD), or Krabbe's disease, presented atypically in an adult MRI. Findings included white matter hyperintensity without contrast enhancement, differing from typical presentations.

Area of Science:

  • Neurology
  • Radiology
  • Medical Imaging

Background:

  • Globoid cell leucodystrophy (GLD), also known as Krabbe's disease, is a rare lysosomal storage disorder.
  • It typically affects infants, with adult-onset cases being exceptionally uncommon.
  • Magnetic Resonance Imaging (MRI) is crucial for diagnosing white matter disorders.

Observation:

  • This report details the MRI findings in a rare adult patient diagnosed with GLD.
  • The patient presented with specific white matter abnormalities on T2-weighted imaging.
  • Key observations included signal changes in the periventricular and corticospinal tracts.

Findings:

  • MRI revealed bilateral periventricular white matter hyperintensity in the parieto-occipital regions on T2-weighted images.

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  • A hyperintense signal was observed bilaterally along the corticospinal tract.
  • Notably, there was an absence of both immediate and delayed contrast enhancement, which is atypical for GLD.

    • Implications:

    • The atypical MRI findings highlight the importance of considering GLD in adult white matter lesions, even with unusual imaging characteristics.
    • This case expands the understanding of the spectrum of MR manifestations in Krabbe's disease.
    • Recognizing atypical presentations is vital for timely diagnosis and management of rare neurological disorders.